Associated Papers
Timing of cognitive decline in CLN3 disease.
Kuper WFE et al.
Journal of Inherited Metabolic Disease, 2018
29392585 (PubMed )
Supplement: 10545_2018_143_MOESM1_ESM.docx
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS et al.
Journal of Inherited Metabolic Disease, 2011
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A et al.
Clinical Genetics, 2009
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